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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 9-127813306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127813306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127813306,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004957.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1466C>T",
"hgvs_p": "p.Ala489Val",
"transcript": "NM_004957.6",
"protein_id": "NP_004948.4",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 587,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373247.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004957.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1466C>T",
"hgvs_p": "p.Ala489Val",
"transcript": "ENST00000373247.7",
"protein_id": "ENSP00000362344.2",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 587,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004957.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373247.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.1454C>T",
"hgvs_p": null,
"transcript": "ENST00000460181.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460181.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1568C>T",
"hgvs_p": "p.Ala523Val",
"transcript": "ENST00000910448.1",
"protein_id": "ENSP00000580507.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 621,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910448.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1517C>T",
"hgvs_p": "p.Ala506Val",
"transcript": "ENST00000910442.1",
"protein_id": "ENSP00000580501.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 604,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910442.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000931643.1",
"protein_id": "ENSP00000601702.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 598,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931643.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Ala500Val",
"transcript": "ENST00000943704.1",
"protein_id": "ENSP00000613763.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 598,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943704.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1487C>T",
"hgvs_p": "p.Ala496Val",
"transcript": "ENST00000931641.1",
"protein_id": "ENSP00000601700.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 594,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931641.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1478C>T",
"hgvs_p": "p.Ala493Val",
"transcript": "ENST00000910447.1",
"protein_id": "ENSP00000580506.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 591,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910447.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ala491Val",
"transcript": "ENST00000910449.1",
"protein_id": "ENSP00000580508.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 589,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910449.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1436C>T",
"hgvs_p": "p.Ala479Val",
"transcript": "ENST00000910443.1",
"protein_id": "ENSP00000580502.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 577,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910443.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "ENST00000910444.1",
"protein_id": "ENSP00000580503.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 569,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910444.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "ENST00000910445.1",
"protein_id": "ENSP00000580504.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 569,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910445.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1388C>T",
"hgvs_p": "p.Ala463Val",
"transcript": "NM_001288803.1",
"protein_id": "NP_001275732.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 561,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288803.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1388C>T",
"hgvs_p": "p.Ala463Val",
"transcript": "ENST00000393706.6",
"protein_id": "ENSP00000377309.2",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 561,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393706.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1388C>T",
"hgvs_p": "p.Ala463Val",
"transcript": "ENST00000943706.1",
"protein_id": "ENSP00000613765.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 561,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943706.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1337C>T",
"hgvs_p": "p.Ala446Val",
"transcript": "ENST00000943702.1",
"protein_id": "ENSP00000613761.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 544,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943702.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Ala441Val",
"transcript": "ENST00000910446.1",
"protein_id": "ENSP00000580505.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 539,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910446.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Ala439Val",
"transcript": "NM_001018078.2",
"protein_id": "NP_001018088.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 537,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018078.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Ala439Val",
"transcript": "ENST00000373225.7",
"protein_id": "ENSP00000362322.3",
"transcript_support_level": 2,
"aa_start": 439,
"aa_end": null,
"aa_length": 537,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373225.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Ala428Val",
"transcript": "ENST00000943703.1",
"protein_id": "ENSP00000613762.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 526,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943703.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Ala402Val",
"transcript": "ENST00000931642.1",
"protein_id": "ENSP00000601701.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 500,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931642.1"
},
{
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}
],
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}